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Back of an elderly woman with neurofibromatosis type 1
SymptomsSmall lumps within the skin, scoliosis, hearing loss, vision loss[1]
Usual onsetBirth to early adulthood[1]
DurationLife long[1]
TypesNeurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), schwannomatosis[1]
Diagnostic methodSymptoms, genetic testing[2]
TreatmentSurgery, radiation therapy[2]
PrognosisNF1: normal life expectancy[1]
NF2: shortened life expectancy[1]
Frequency1 in 3,000 people (United States)[1]

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.[1] The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis.[1] In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis.[2] In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh-colored skin flaps, and muscle wasting.[2] The tumors are generally non-cancerous.[1]

The cause is a genetic mutation in certain genes.[1] These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development.[1] The tumors involve supporting cells in the nervous system rather than the neurons.[1] In NF1 the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common.[1] Diagnosis is typically based on the signs and symptoms and is occasionally supported by genetic testing.[2]

There is no known prevention or cure.[1][2] Surgery may be done to remove tumors that are causing problems or have become cancerous.[1] Radiation and chemotherapy may also be used if cancer occurs.[1] A cochlear implant or auditory brainstem implant may help some who have hearing loss.[1]

In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2.[1] Males and females are affected equally frequently.[2] In NF1, symptoms are often present at birth and otherwise develop before 10 years of age.[1] While the condition typically worsens with time, most people with NF1 have a normal life expectancy.[1] In NF2, symptoms may not become apparent until early adulthood.[1] NF2 increases the risk of early death.[1] Descriptions of the condition occur as far back as the 1st century.[3]

YouTube Encyclopedic

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  • ✪ What is Neurofibromatosis Type 1 (NF1)?
  • ✪ A challenging case of neurofibromatosis
  • ✪ Neurofibromatosis Types 1 and 2
  • ✪ Neurofibromatosis Type 1 (von Recklinghausen's Disease)
  • ✪ "The Neurofibromatosis..." by Dr. Christopher Moertel


Hello, in this HealthSketch, we want to talk to you about Neurofibromatosis. It’s a bit hard to say, but the name makes sense: “Neuro” means the nerves in the body, while “fibromas” are the lumps that occur with the condition. There are different types of Neurofibromatosis, and in this video we’ll be talking about the most common type, NF1, which approximately one in every 2700 people are born with. It is caused by a change in your genes, which is either inherited from a parent, or a new random change in the cells that create a baby. This genetic change causes lumps to grow on the nerves. A number of different criteria are used to help diagnose NF1, and genetic testing may also be used. The most noticeable signs appear on the skin, which might be present at birth, or may develop in early childhood: Flat, light brown patches on the skin, called “café au lait” spots, or ‘CALS’ because they are a similar colour to milky coffee. They are often dismissed as just birthmarks. Freckles in unusual places such as the armpits or groin. Lumps or bumps, either on or under the skin, which vary in size and number. Small lumps called cutaneous neurofibromas are generally harmless and there may be few or many. Large lumps, called plexiform neurofibromas, tend to be few in number and are more likely to cause problems. Doctors can advise if removal or medication is possible. It’s important to know that NF1 affects everyone differently. Whilst some will have only mild symptoms, NF1 varies so much that others may have serious complications and additional related conditions. These might include: Learning difficulties, autism or ADHD: which will probably require more support in school Problems with the joints and the  bones, such as hypermobility, fractures, curving of the legs or spine, and changes to the shape of the chest wall. Problems with eyesight, if the nerve to the eye is affected High blood pressure which can be a sign of other complications Epilepsy and other symptoms that relate to the nervous system Disfigurement, which may or may not cause anxiety and impact on quality of life In some cases, tumours such as brain and breast cancer Because of this risk of complications, and because NF1 can change over time, it is important to report new or changing symptoms to your doctor so that problems can be picked up early. You should also have a routine check-up at least every year with someone who knows about the condition. Further tests may be required, such as an imaging test, and there may be treatments for specific problems, such as surgery. Depending on the symptoms experienced, a team of professionals might be involved in care, such as a paediatrician, geneticist, neurologist, dermatologist, eye specialist, bone specialist, oncologist, psychologist, and others. It is common to sometimes feel worried or upset about having NF1 or having a child with NF1, and you should discuss these feelings with your doctor. Online support groups are a good source of support, as you can connect to others who have had similar experiences. While there is no cure for NF1, and in some cases it can lead to serious complications and reduced life expectancy, with regular check-ups and appropriate care, many people with NF1 can lead fulfilling lives. In this HealthSketch, we’ve talked about Neurofibromatosis Type 1, a genetic condition that causes lumps to grow on the nerves. We’ve talked about why it occurs, the main signs, the more serious problems to be aware of, and how it is managed. We hope this HealthSketch has been helpful to you and those around you.


Signs and symptoms

Lisch nodules as seen in NF1
Lisch nodules as seen in NF1
Person with multiple small neurofibromas in the skin and a "café au lait spot" (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions.
Person with multiple small neurofibromas in the skin and a "café au lait spot" (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions.

Neurofibromatosis (NF1) in early life may cause learning and behavior problems – about 60% of children who have NF1 have a mild form of difficulty in school.[4] In terms of signs the individual might have are the following:[5][6]


Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop.[7] If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the condition of the parent does not affect the child; the affected child may have mild NF1 even though inherited from a parent with a severe form of the disorder.[8] The types of neurofibromatosis are:

  • Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and which may cause serious damage by compressing nerves and other tissues.[9]
  • Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.[10]
  • Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves.[11]


The pathophysiology of neurofibromatosis (type 1) consists of the NF1 gene protein.[12] This protein is a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. A dysfunction of neurofibromin can affect regulation, and cause uncontrolled cell proliferation. Schwann cells in neurofibromas have a mutation in the NF1 alleles.[13]


The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses).[14] The diagnosis of neurofibromatosis is done via the following means:[15]

Differential diagnosis

Conditions which may be confused with NF include:[citation needed]


Surgical removal of tumors is an option, however, the risks involved should be assessed first.[19] With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. However, radiotherapy isn't recommended in children who present with this disorder.[20] It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored.[21]


In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.[6]


NF1 occurs in 1 in 3000 individuals and is equally prevalent among men and women. It is among the most common inherited nervous system disorders.[22] Affected individuals have a 10- to 15-year reduction in life expectancy as compared to average.[23]


  1. ^ a b c d e f g h i j k l m n o p q r s t u v w x "Neurofibromatosis Fact Sheet". NINDS. 3 February 2016. Archived from the original on 23 January 2018. Retrieved 16 April 2018. This article incorporates text from this source, which is in the public domain.
  2. ^ a b c d e f g "Learning about Neurofibromatosis". National Human Genome Research Institute (NHGRI). 16 August 2016. Archived from the original on 10 October 2016. Retrieved 7 November 2016. This article incorporates text from this source, which is in the public domain.
  3. ^ Evans, Rosalie E. Ferner, Susan M. Huson, D. Gareth R. (2011). Neurofibromatoses in clinical practice. London: Springer. p. 1. ISBN 978-0-85729-628-3. Archived from the original on 10 September 2017. Retrieved 9 October 2015.
  4. ^ "Neurofibromatosis". NHS Choices. NHS. Archived from the original on 25 September 2015. Retrieved 9 October 2015.
  5. ^ "Neurofibromatosis". NINDS. NIH. Archived from the original on 4 October 2015. Retrieved 9 October 2015.
  6. ^ a b "NINDS Neurofibromatosis Information Page". 23 February 2015. Archived from the original on 4 April 2015. Retrieved 21 April 2015.
  7. ^ Woodrow, Christopher; Clarke, Anna; Amirfeyz, Rouin (1 June 2015). "Neurofibromatosis". Orthopaedics and Trauma. 29 (3): 206–210. doi:10.1016/j.mporth.2015.02.004. ISSN 1877-1327.
  8. ^ Choices, NHS. "Neurofibromatosis type 1 - Causes - NHS Choices". Archived from the original on 24 September 2015. Retrieved 9 October 2015.
  9. ^ "Neurofibromatosis type 1". Genetics Home Reference. 5 October 2015. Archived from the original on 10 September 2015. Retrieved 9 October 2015.
  10. ^ "Neurofibromatosis type 2". Genetics Home Reference. 5 October 2015. Archived from the original on 10 September 2015. Retrieved 9 October 2015.
  11. ^ Perry, Arie; Brat, Daniel J. (1 January 2010). Practical Surgical Neuropathology: A Diagnostic Approach. Elsevier Health Sciences. p. 435. ISBN 978-0443069826. Archived from the original on 2 May 2016.
  12. ^ "Orphanet: Neurofibromatosis type 1". Archived from the original on 6 October 2015. Retrieved 13 October 2015.
  13. ^ Boyd, Kevin P.; Korf, Bruce R.; Theos, Amy (July 2009). "Neurofibromatosis type 1". Journal of the American Academy of Dermatology. 61 (1): 1–14. doi:10.1016/j.jaad.2008.12.051. PMC 2716546. PMID 19539839.
  14. ^ Conrad Fischer; Farshad Bagheri; Rajpal Manchandani; Richard Pinsker; Sudheer Chauhan; Parenkumar Patel; Mohammad Maruf; Dhaval Satani; Kaushik Doshi; Ayaz Alwani; Naveen Pathak; Craigh Thurm; Mohammad Babury; Mahendra C. Patel; Arthur Shalanov; Samir Sarkar; Sabiha Raouf; Jebun Nahar; Prakashkumar Patel (2010). Master the Board USMLE Step 2 CK. KAPLAN Medical. p. 287. ISBN 978-1-60714-653-7.
  15. ^ "Neurofibromatosis. What is neurofibromatosis? Type 1 (NF1) | Patient". Patient. Archived from the original on 4 October 2015. Retrieved 9 October 2015.
  16. ^ Friedman, J. M. (2014). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To (eds.). Neurofibromatosis 1. Seattle (WA): University of Washington, Seattle. PMID 20301288. Archived from the original on 18 January 2017.
  17. ^ Stevenson, David; Viskochil, David; Mao, Rong (2015). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To (eds.). Legius Syndrome. Seattle (WA): University of Washington, Seattle. PMID 20945555. Archived from the original on 10 September 2017.
  18. ^ El-Sobky, Tamer Ahmed; Elsayed, Solaf M.; El Mikkawy, Dalia M.E. (2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Reports. 3: 104–108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.
  19. ^ Choices, NHS. "Neurofibromatosis type 2 - Treatment - NHS Choices". Archived from the original on 22 December 2015. Retrieved 11 October 2015.
  20. ^ "Complex Neufibrmatosis type 1" (PDF). NHS. Archived (PDF) from the original on 23 December 2015. Retrieved 13 October 2015.
  21. ^ Choices, NHS. "Neurofibromatosis type 1 - Treatment - NHS Choices". Archived from the original on 26 September 2015. Retrieved 11 October 2015.
  22. ^ Norden, Andrew D.; Reardon, David A.; Wen, Patrick Y. (16 December 2010). Primary Central Nervous System Tumors: Pathogenesis and Therapy. Springer Science & Business Media. p. 459. ISBN 9781607611660. Archived from the original on 10 June 2016.
  23. ^ Runge, Marschall S.; Patterson, Cam (18 November 2007). Principles of Molecular Medicine. Springer Science & Business Media. p. 1160. ISBN 9781592599639. Archived from the original on 9 May 2016.

Further reading

External links

This page was last edited on 23 October 2019, at 10:22
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